NCT06864000 · RECRUITING
Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy
This is an observational research study, not a treatment trial. Researchers in France are collecting genetic samples from patients already diagnosed with cerebral amyloid angiopathy, a condition where amyloid protein builds up in brain blood vessels, causing bleeds and cognitive problems. They want to understand which genetic variants, including APOE, drive the disease and its progression. There is no drug or intervention being tested. Details beyond genetic characterization are limited so far.
You may qualify if
- Patients with a diagnosis of cerebral amyloid angiopathy (CAA) whose genetic samples are initially sent to the Rouen or Paris-Lariboisière genetics laboratories for molecular diagnosis of a genetic cause, thanks to national recruitment and for whom the patients consent to continuing genetic analyses for research purposes without feedback.
- Diagnosis of cerebral amyloid angiopathy (CAA) certain or probable according to the modified Boston diagnostic criteria (1) (except age)
- Age of onset of symptoms \<66 years
- Absence of APP mutation/duplication (analysis must already have been carried out in the laboratory on receipt of the sample as part of routine care)
- Signed consent for research
- Patient covered by a social security scheme
You're excluded if
- Age at first neurological symptom > 66 years
- Minor patients
- Other differential diagnosis that better explains the clinical situation
- Identification of mutations or duplication of the APP gene
- AAC possible but not probable according to the revised Boston criteria
- Patient deprived of liberty by judicial or administrative decision
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2025-03-07